Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3082970_3083024del | CA2651674822 | AVP | c.280_322+12del | gnomAD v4 |
20 | g.3083012C>A | CA121957 | AVP | c.287G>T (p.Gly96Val) | ClinVar dbSNP gnomAD v4 |
20 | g.3083012C= | CA2346405535 | AVP | c.287G= (p.Gly96=) | |
20 | g.3083012C>G | CA408061541 | AVP | c.287G>C (p.Gly96Ala) | gnomAD v4 |
20 | g.3083012C>T | CA408061542 | AVP | c.287G>A (p.Gly96Asp) | gnomAD v4 |
20 | g.3083016dup | CA2651674841 | AVP | c.287dup (p.Arg97ProfsTer?) | gnomAD v4 |
20 | g.3083016del | CA634329007 | AVP | c.287del (p.Gly96AlafsTer16) | gnomAD v2 gnomAD v4 |
20 | g.3083013C>A | CA408061543 | AVP | c.286G>T (p.Gly96Cys) | gnomAD v4 |
20 | g.3083013C>G | CA408061544 | AVP | c.286G>C (p.Gly96Arg) | |
20 | g.3083013C>T | CA408061545 | AVP | c.286G>A (p.Gly96Ser) | gnomAD v4 |
20 | g.3083014C>A | CA509554660 | AVP | c.285G>T (p.Gly95=) | gnomAD v4 |
20 | g.3083014C= | CA2346405536 | AVP | c.285G= (p.Gly95=) | |
20 | g.3083014C>G | CA9739444 | AVP | c.285G>C (p.Gly95=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083014C>T | CA509554661 | AVP | c.285G>A (p.Gly95=) | gnomAD v4 |
20 | g.3083015C>A | CA408061546 | AVP | c.284G>T (p.Gly95Val) | gnomAD v4 |
20 | g.3083015C= | CA2346405537 | AVP | c.284G= (p.Gly95=) | |
20 | g.3083015C>G | CA408061547 | AVP | c.284G>C (p.Gly95Ala) | |
20 | g.3083015C>T | CA408061548 | AVP | c.284G>A (p.Gly95Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083016C>A | CA408061549 | AVP | c.283G>T (p.Gly95Trp) | gnomAD v4 |
20 | g.3083016C= | CA2346405538 | AVP | c.283G= (p.Gly95=) | |
20 | g.3083016C>G | CA408061550 | AVP | c.283G>C (p.Gly95Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083016C>T | CA310943232 | AVP | c.283G>A (p.Gly95Arg) | dbSNP gnomAD v4 |
20 | g.3083017G>A | CA509554670 | AVP | c.282C>T (p.Ser94=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083017G>C | CA9739445 | AVP | c.282C>G (p.Ser94Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083017G= | CA2346405539 | AVP | c.282C= (p.Ser94=) | |
20 | g.3083017G>T | CA408061551 | AVP | c.282C>A (p.Ser94Arg) | gnomAD v4 |
20 | g.3083018C>A | CA408061552 | AVP | c.281G>T (p.Ser94Ile) | gnomAD v4 |
20 | g.3083018C>G | CA408061553 | AVP | c.281G>C (p.Ser94Thr) | |
20 | g.3083018C>T | CA408061554 | AVP | c.281G>A (p.Ser94Asn) | gnomAD v4 |
20 | g.3083019T>A | CA408061555 | AVP | c.280A>T (p.Ser94Cys) | |
20 | g.3083019T>C | CA408061556 | AVP | c.280A>G (p.Ser94Gly) | gnomAD v4 |
20 | g.3083019T>G | CA408061557 | AVP | c.280A>C (p.Ser94Arg) | |
20 | g.3083020C>A | CA509554677 | AVP | c.279G>T (p.Gly93=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083020C= | CA2346405540 | AVP | c.279G= (p.Gly93=) | |
20 | g.3083020C>G | CA509554678 | AVP | c.279G>C (p.Gly93=) | dbSNP |
20 | g.3083020C>T | CA509554679 | AVP | c.279G>A (p.Gly93=) | gnomAD v4 |
20 | g.3083022del | CA2651674842 | AVP | c.279del (p.Ser94AlafsTer18) | gnomAD v4 |
20 | g.3083021C>A | CA408061558 | AVP | c.278G>T (p.Gly93Val) | gnomAD v4 |
20 | g.3083021C= | CA2346405541 | AVP | c.278G= (p.Gly93=) | |
20 | g.3083021C>G | CA408061559 | AVP | c.278G>C (p.Gly93Ala) | |
20 | g.3083021C>T | CA9739446 | AVP | c.278G>A (p.Gly93Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083022C>A | CA121955 | AVP | c.277G>T (p.Gly93Trp) | ClinVar dbSNP gnomAD v4 |
20 | g.3083022C= | CA2346405542 | AVP | c.277G= (p.Gly93=) | |
20 | g.3083022C>G | CA408061560 | AVP | c.277G>C (p.Gly93Arg) | |
20 | g.3083022C>T | CA408061561 | AVP | c.277G>A (p.Gly93Arg) | dbSNP gnomAD v4 |
20 | g.3083023G>A | CA509554684 | AVP | c.276C>T (p.Cys92=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083023G>C | CA408061562 | AVP | c.276C>G (p.Cys92Trp) | gnomAD v4 |
20 | g.3083023G= | CA2346405543 | AVP | c.276C= (p.Cys92=) | |
20 | g.3083023G>T | CA408061563 | AVP | c.276C>A (p.Cys92Ter) | gnomAD v4 |
20 | g.3083024C>A | CA408061564 | AVP | c.275G>T (p.Cys92Phe) | ClinVar gnomAD v4 |